Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
Times Cited: 155
Times Cited: 155
Times Cited
Times Co-cited
Similarity
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.
C Chiang, Y Litingtung, E Lee, K E Young, J L Corden, H Westphal, P A Beachy. Nature 1996
C Chiang, Y Litingtung, E Lee, K E Young, J L Corden, H Westphal, P A Beachy. Nature 1996
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Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice.
Mingi Hong, Robert S Krauss. PLoS Genet 2012
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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
E Roessler, E Belloni, K Gaudenz, P Jay, P Berta, S W Scherer, L C Tsui, M Muenke. Nat Genet 1996
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The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.
Henry W Kietzman, Joshua L Everson, Kathleen K Sulik, Robert J Lipinski. PLoS One 2014
Henry W Kietzman, Joshua L Everson, Kathleen K Sulik, Robert J Lipinski. PLoS One 2014
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Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
Gyu-Un Bae, Sabina Domené, Erich Roessler, Karen Schachter, Jong-Sun Kang, Maximilian Muenke, Robert S Krauss. Am J Hum Genet 2011
Gyu-Un Bae, Sabina Domené, Erich Roessler, Karen Schachter, Jong-Sun Kang, Maximilian Muenke, Robert S Krauss. Am J Hum Genet 2011
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New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo-Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid,[...]. J Med Genet 2011
Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo-Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid,[...]. J Med Genet 2011
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Analysis of genotype-phenotype correlations in human holoprosencephaly.
Benjamin D Solomon, Sandra Mercier, Jorge I Vélez, Daniel E Pineda-Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Veronique David, Sylvie Odent, Erich Roessler,[...]. Am J Med Genet C Semin Med Genet 2010
Benjamin D Solomon, Sandra Mercier, Jorge I Vélez, Daniel E Pineda-Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Veronique David, Sylvie Odent, Erich Roessler,[...]. Am J Med Genet C Semin Med Genet 2010
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Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly.
Wei Zhang, Jong-Sun Kang, Francesca Cole, Min-Jeong Yi, Robert S Krauss. Dev Cell 2006
Wei Zhang, Jong-Sun Kang, Francesca Cole, Min-Jeong Yi, Robert S Krauss. Dev Cell 2006
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Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
Jeffrey E Ming, Maximilian Muenke. Am J Hum Genet 2002
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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
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Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
Xin Geng, Christina Speirs, Oleg Lagutin, Adi Inbal, Wei Liu, Lilianna Solnica-Krezel, Yongsu Jeong, Douglas J Epstein, Guillermo Oliver. Dev Cell 2008
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Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.
Erich Roessler, Jorge I Vélez, Nan Zhou, Maximilian Muenke. Mol Genet Metab 2012
Erich Roessler, Jorge I Vélez, Nan Zhou, Maximilian Muenke. Mol Genet Metab 2012
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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
Erich Roessler, Yang-Zhu Du, Jose L Mullor, Esther Casas, William P Allen, Gabriele Gillessen-Kaesbach, Elizabeth R Roeder, Jeffrey E Ming, Ariel Ruiz i Altaba, Maximilian Muenke. Proc Natl Acad Sci U S A 2003
Erich Roessler, Yang-Zhu Du, Jose L Mullor, Esther Casas, William P Allen, Gabriele Gillessen-Kaesbach, Elizabeth R Roeder, Jeffrey E Ming, Ariel Ruiz i Altaba, Maximilian Muenke. Proc Natl Acad Sci U S A 2003
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Holoprosencephaly.
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Genetics of ventral forebrain development and holoprosencephaly.
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Holoprosencephaly: clinical, anatomic, and molecular dimensions.
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Non-genetic risk factors for holoprosencephaly.
Candice Y Johnson, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2010
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Holoprosencephaly in human embryos: epidemiologic studies of 150 cases.
E Matsunaga, K Shiota. Teratology 1977
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The Hedgehog-binding proteins Gas1 and Cdo cooperate to positively regulate Shh signaling during mouse development.
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Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.
Emanuele Leoncini, Giovanni Baranello, Iêda M Orioli, Göran Annerén, Marian Bakker, Fabrizio Bianchi, Carol Bower, Mark A Canfield, Eduardo E Castilla, Guido Cocchi,[...]. Birth Defects Res A Clin Mol Teratol 2008
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The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
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Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation.
Jin S Hahn, Patrick D Barnes. Am J Med Genet C Semin Med Genet 2010
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Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.
Nicholas Warr, Nicola Powles-Glover, Anna Chappell, Joan Robson, Dominic Norris, Ruth M Arkell. Hum Mol Genet 2008
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Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes,[...]. Hum Mutat 2016
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes,[...]. Hum Mutat 2016
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Molecular interactions coordinating the development of the forebrain and face.
Ralph S Marcucio, Dwight R Cordero, Diane Hu, Jill A Helms. Dev Biol 2005
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Boc modifies the holoprosencephaly spectrum of Cdo mutant mice.
Wei Zhang, Mingi Hong, Gyu-un Bae, Jong-Sun Kang, Robert S Krauss. Dis Model Mech 2011
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Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly.
Kazushi Aoto, Yayoi Shikata, Daisuke Higashiyama, Kohei Shiota, Jun Motoyama. Birth Defects Res A Clin Mol Teratol 2008
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Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.
Kenichiro Taniguchi, Anoush E Anderson, Ann E Sutherland, David Wotton. PLoS Genet 2012
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The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice.
Toyoaki Tenzen, Benjamin L Allen, Francesca Cole, Jong-Sun Kang, Robert S Krauss, Andrew P McMahon. Dev Cell 2006
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Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
Daniel E Pineda-Alvarez, Erich Roessler, Ping Hu, Kshitij Srivastava, Benjamin D Solomon, C Evan Siple, Chen-Ming Fan, Maximilian Muenke. Hum Genet 2012
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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
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Genesis of teratogen-induced holoprosencephaly in mice.
Robert J Lipinski, Elizabeth A Godin, Shonagh K O'leary-Moore, Scott E Parnell, Kathleen K Sulik. Am J Med Genet C Semin Med Genet 2010
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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
S A Brown, D Warburton, L Y Brown, C Y Yu, E R Roeder, S Stengel-Rutkowski, R C Hennekam, M Muenke. Nat Genet 1998
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Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.
Anna Petryk, Daniel Graf, Ralph Marcucio. Wiley Interdiscip Rev Dev Biol 2015
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Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.
Dwight Cordero, Ralph Marcucio, Diane Hu, William Gaffield, Minal Tapadia, Jill A Helms. J Clin Invest 2004
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A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.
R F Arauz, B D Solomon, D E Pineda-Alvarez, A L Gropman, J A Parsons, E Roessler, M Muenke. Mol Syndromol 2010
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Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study.
Eric A Miller, Sonja A Rasmussen, Anna Maria Siega-Riz, Jaime L Frías, Margaret A Honein. Am J Med Genet C Semin Med Genet 2010
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Epidemiology of holoprosencephaly: Prevalence and risk factors.
Iêda M Orioli, Eduardo E Castilla. Am J Med Genet C Semin Med Genet 2010
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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
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Yongsu Jeong, Federico Coluccio Leskow, Kenia El-Jaick, Erich Roessler, Maximilian Muenke, Anastasia Yocum, Christele Dubourg, Xue Li, Xin Geng, Guillermo Oliver,[...]. Nat Genet 2008
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Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.
Galen W Heyne, Cal G Melberg, Padydeh Doroodchi, Kia F Parins, Henry W Kietzman, Joshua L Everson, Lydia J Ansen-Wilson, Robert J Lipinski. PLoS One 2015
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Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon.
Francesca Cole, Robert S Krauss. Curr Biol 2003
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The mechanisms of Hedgehog signalling and its roles in development and disease.
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Boc and Gas1 each form distinct Shh receptor complexes with Ptch1 and are required for Shh-mediated cell proliferation.
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Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
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Holoprosencephaly: An update on cytogenetic abnormalities.
Claude Bendavid, Valérie Dupé, Lucie Rochard, Isabelle Gicquel, Christèle Dubourg, Véronique David. Am J Med Genet C Semin Med Genet 2010
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Coordinate regulation and synergistic actions of BMP4, SHH and FGF8 in the rostral prosencephalon regulate morphogenesis of the telencephalic and optic vesicles.
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Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers.
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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
Daniel E Pineda-Alvarez, Christèle Dubourg, Véronique David, Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
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10
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.